Article
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Aug 2024
Snyder Allison, Ryan Veronica H, Hawrot James, Lawton Sydney, Ramos Daniel M, Qi Y Andy, Johnson Kory R, Reed Xylena, Johnson Nicholas L, Kollasch Aaron W, Duffy Megan F, VandeVrede Lawren, Cochran J Nicholas, Miller Bruce L, Toro Camilo, Bielekova Bibiana, Marks Debora S, Yokoyama Jennifer S, Kwan Justin Y, Cookson Mark R, Ward Michael E
Abstract excerpt
INTRODUCTION: Variants of uncertain significance (VUS) surged with affordable genetic testing, posing challenges for determining pathogenicity. We examine the pathogenicity of a novel VUS P93S in Annexin A11 (ANXA11) - an amyotrophic lateral sclerosis/frontotemporal dementia-associated gene - in a corticobasal syndrome kindred. Established ANXA11 mutations cause ANXA11 aggregation, altered lysosomal-RNA granule...
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